Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.
Benefits of enzyme replacement therapy with Myozyme (alglucosidase alfa), anecdotally reported in late-onset Pompe disease, range from motor and pulmonary improvement in less severely affected patients, to stabilization with minimal improvement in those with advanced disease. We report a case of a 63-year-old patient with significant morbidity who made notable motor and pulmonary function gains after two years on therapy. Thus, improvements in those with advanced disease may be possible after long-term treatment.
Case
Laura E
LE
Division of Physical Therapy, Department of Community and Family Medicine, Duke University Medical Center, Durham, North Carolina, NC 27708, USA. case0001@mc.duke.edu
Koeberl
Dwight D
DD
Young
Sarah P
SP
Bali
Deeksha
D
DeArmey
Stephanie M
SM
Mackey
Joanne
J
Kishnani
Priya S
PS
D001691:Biological Therapy; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000201:enzymology* / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D008875:Middle Aged; D009043:Motor Activity; D016896:Treatment Outcome; D000520:alpha-Glucosidases / Q000008:administration & dosage*
C509951:GAA protein, human; D000520:alpha-Glucosidases